NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs) AND Metachromatic leukodystrophy

Clinical significance:Likely pathogenic (Last evaluated: Jun 20, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000169193.1

Allele description [Variation Report for NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs)]

NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs)

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs)
HGVS:
  • NC_000022.11:g.50625185_50625188dup
  • NG_009260.2:g.7994_7997dup
  • NM_000487.6:c.1489_1492dupMANE SELECT
  • NM_001085425.3:c.1489_1492dup
  • NM_001085426.3:c.1489_1492dup
  • NM_001085427.3:c.1489_1492dup
  • NM_001085428.3:c.1231_1234dup
  • NM_001362782.2:c.1231_1234dup
  • NP_000478.3:p.Arg498fs
  • NP_001078894.2:p.Arg498fs
  • NP_001078895.2:p.Arg498fs
  • NP_001078896.2:p.Arg498fs
  • NP_001078897.1:p.Arg412fs
  • NP_001349711.1:p.Arg412fs
  • NC_000022.10:g.51063613_51063616dup
  • NM_000487.5:c.1489_1492dupCCCC
Protein change:
R412fs
Links:
dbSNP: rs774153480
NCBI 1000 Genomes Browser:
rs774153480
Molecular consequence:
  • NM_000487.6:c.1489_1492dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001085425.3:c.1489_1492dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001085426.3:c.1489_1492dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001085427.3:c.1489_1492dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001085428.3:c.1231_1234dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362782.2:c.1231_1234dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Metachromatic leukodystrophy (MLD)
Synonyms:
Metachromatic leukoencephalopathy; Sulfatide lipidosis; Cerebral sclerosis diffuse metachromatic form; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018868; MedGen: C0023522; Orphanet: 512; OMIM: 250100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000220440Counsylcriteria provided, single submitter
Likely pathogenic
(Jun 20, 2014)
unknownliterature only

PubMed (1)
[See all records that cite this PMID]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Details of each submission

From Counsyl, SCV000220440.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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